autosomal dominant intellectual developmental disorder 8

Summary
Synonym
  • MRD8
  • autosomal dominant mental retardation 8
  • autosomal dominant non-syndromic intellectual disability 8
Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3.
Super Class
autosomal dominant intellectual developmental disorder
Disease Ontology
DOID:0070038
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2902 GRIN1 glutamate ionotropic receptor NMDA type subunit 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q05586 Glutamate receptor ionotropic, NMDA 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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